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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking Lias and Hyperglycinemia, Lactic Acidosis, and Seizures in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with LIAS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Hyperglycinemia, Lactic Acidosis, and Seizures  (DOID:9000776)
  • 8 papers in RGD have been used to annotate Lias


  • An association has been curated linking Lias and Hyperglycinemia, Lactic Acidosis, and Seizures in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with LIAS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Hyperglycinemia, Lactic Acidosis, and Seizures  (DOID:9000776)
  • 8 papers in RGD have been used to annotate Lias
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
  • Original References(s): PMID:28492532


  • An association has been curated linking Lias and Hyperglycinemia, Lactic Acidosis, and Seizures in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with LIAS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Hyperglycinemia, Lactic Acidosis, and Seizures  (DOID:9000776)
  • 8 papers in RGD have been used to annotate Lias
  • Curation Notes: ClinVar Annotator: match by OMIM:614462
  • Original References(s): PMID:24334290


  • An association has been curated linking Lias and Hyperglycinemia, Lactic Acidosis, and Seizures in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with LIAS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Hyperglycinemia, Lactic Acidosis, and Seizures  (DOID:9000776)
  • 8 papers in RGD have been used to annotate Lias
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
  • Original References(s): PMID:2152680 PMID:22152680 PMID:27923773 PMID:28492532


  • An association has been curated linking Lias and Hyperglycinemia, Lactic Acidosis, and Seizures in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with LIAS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Hyperglycinemia, Lactic Acidosis, and Seizures  (DOID:9000776)
  • 8 papers in RGD have been used to annotate Lias
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
  • Original References(s): PMID:24334290 PMID:28492532


  • An association has been curated linking Lias and Hyperglycinemia, Lactic Acidosis, and Seizures in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with LIAS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Hyperglycinemia, Lactic Acidosis, and Seizures  (DOID:9000776)
  • 8 papers in RGD have been used to annotate Lias
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
  • Original References(s): PMID:24334290 PMID:27923773 PMID:28492532


  • An association has been curated linking Lias and Hyperglycinemia, Lactic Acidosis, and Seizures in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with LIAS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Hyperglycinemia, Lactic Acidosis, and Seizures  (DOID:9000776)
  • 8 papers in RGD have been used to annotate Lias
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
  • Original References(s): PMID:26467025 PMID:28492532


  • An association has been curated linking Lias and Hyperglycinemia, Lactic Acidosis, and Seizures in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with LIAS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Hyperglycinemia, Lactic Acidosis, and Seizures  (DOID:9000776)
  • 8 papers in RGD have been used to annotate Lias
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
  • Original References(s): PMID:25741868


  • An association has been curated linking Lias and Hyperglycinemia, Lactic Acidosis, and Seizures in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with LIAS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Hyperglycinemia, Lactic Acidosis, and Seizures  (DOID:9000776)
  • 8 papers in RGD have been used to annotate Lias
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency


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